Search filters

List of works by Sebastian Gerety

Contribution of retrotransposition to developmental disorders

scientific article published on 11 October 2019

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

scientific article published on 5 October 2015

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

scientific article published on 16 December 2019

Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

scientific article published in 2023

Pathogenicity and selective constraint on variation near splice sites

scientific article published on 26 December 2018

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

scientific article published in July 2014

Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome

scientific article published on 17 October 2013

Paulina is supported by:

About Paulina

Help